Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
EGR3	1960	broad.mit.edu	37	8	22548754	22548754	+	Silent	SNP	T	T	C			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr8:22548754T>C	ENST00000317216.2	-	2	753	c.396A>G	c.(394-396)ccA>ccG	p.P132P	EGR3_ENST00000519492.1_3'UTR|EGR3_ENST00000522910.1_Silent_p.P94P|RP11-459E5.1_ENST00000523627.1_RNA|EGR3_ENST00000524088.1_5'UTR	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3	132					circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		CACCCTGCGGTGGCTGCACCA	0.657000													21	61					0	0	1	0	0
GSS	2937	broad.mit.edu	37	20	33529526	33529526	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr20:33529526C>A	ENST00000216951.2	-	6	696	c.598G>T	c.(598-600)Ggc>Tgc	p.G200C	GSS_ENST00000451957.2_Intron|GSS_ENST00000541098.1_Missense_Mutation_p.G72C	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	200					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	TTGGGTGAGCCGTAGAGCTCC	0.488000													19	69					6.94344e-10	7.97029e-10	1	1	0
RPS3A	6189	broad.mit.edu	37	4	152022138	152022138	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr4:152022138G>T	ENST00000322686.6	+	4	163	c.139G>T	c.(139-141)Gat>Tat	p.D47Y	RPS3A_ENST00000506126.1_Missense_Mutation_p.D23Y|RPS3A_ENST00000274065.4_Missense_Mutation_p.D60Y|RPS3A_ENST00000514682.1_Missense_Mutation_p.D23Y|RPS3A_ENST00000512690.1_Missense_Mutation_p.D60Y|RPS3A_ENST00000509736.1_Intron			P61247	RS3A_HUMAN	ribosomal protein S3A	60					cell differentiation|endocrine pancreas development|induction of apoptosis|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			endometrium(1)|lung(1)|ovary(1)|pancreas(1)	4	all_hematologic(180;0.093)					AATTGCATCTGATGGTCTCAA	0.353000													12	26					0.000308642	0.000326679	1	1	0
C1S	716	broad.mit.edu	37	12	7175004	7175004	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr12:7175004G>A	ENST00000406697.1	+	13	1752	c.1124G>A	c.(1123-1125)aGc>aAc	p.S375N	C1S_ENST00000360817.5_Missense_Mutation_p.S375N|C1S_ENST00000495061.1_3'UTR|C1S_ENST00000328916.3_Missense_Mutation_p.S375N|C1S_ENST00000402681.3_Missense_Mutation_p.S208N			P09871	C1S_HUMAN	complement component 1, s subcomponent	375	Sushi 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GACCCAGAGAGCACTTTGTTT	0.478000													46	268					0	0	1	0	0
MSMB	4477	broad.mit.edu	37	10	51556795	51556795	+	Missense_Mutation	SNP	T	T	A	rs1804780		TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr10:51556795T>A	ENST00000358559.2	+	3	241	c.154T>A	c.(154-156)Tgg>Agg	p.W52R	MSMB_ENST00000298239.6_Intron|MSMB_ENST00000474170.1_3'UTR	NM_002443.3	NP_002434.1	P08118	MSMB_HUMAN	microseminoprotein, beta-	52			W -> R (in dbSNP:rs1804780).			extracellular space|nucleus				lung(4)|ovary(2)|prostate(1)	7						AAACTCGGAGTGGCAGACTGA	0.443000													22	31					0	0	1	0	0
IGHV4-61	28391	broad.mit.edu	37	14	107095337	107095337	+	RNA	SNP	A	A	T			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr14:107095337A>T	ENST00000390630.2	-	0	243																											ACCACTGCTGACGGAGCCACC	0.602000													11	166					0	0	1	0	0
VKORC1	79001	broad.mit.edu	37	16	31105624	31105624	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr16:31105624C>A	ENST00000394971.3	-	1	246	c.199G>T	c.(199-201)Ggt>Tgt	p.G67C	VKORC1_ENST00000300851.6_Intron|VKORC1_ENST00000319788.7_Intron|RP11-196G11.1_ENST00000529564.1_Intron|VKORC1_ENST00000498155.1_Intron|VKORC1_ENST00000394975.2_Intron|VKORC1_ENST00000354895.4_Intron			Q9BQB6	VKOR1_HUMAN	vitamin K epoxide reductase complex, subunit 1	0					peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane	vitamin-K-epoxide reductase (warfarin-sensitive) activity			lung(3)|urinary_tract(1)	4					Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)	TCCTGGTCACCGTTATTCCTT	0.592000													44	307					4.14194e-30	5.57963e-30	1	1	0
HSPG2	3339	broad.mit.edu	37	1	22176570	22176570	+	Nonsense_Mutation	SNP	C	C	T			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr1:22176570C>T	ENST00000374695.3	-	57	7489	c.7410G>A	c.(7408-7410)tgG>tgA	p.W2470*	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2470	Ig-like C2-type 10.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	p.W2470*(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CGCGCTTGTGCCACGTGACCT	0.652000													45	178					0	0	1	0	0
CORO7	79585	broad.mit.edu	37	16	4411441	4411441	+	Silent	SNP	C	C	A			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr16:4411441C>A	ENST00000251166.4	-	17	1753	c.1608G>T	c.(1606-1608)acG>acT	p.T536T	CORO7_ENST00000537233.2_Silent_p.T518T|CORO7_ENST00000574025.1_Silent_p.T451T|CORO7_ENST00000539968.1_Silent_p.T316T|CORO7-PAM16_ENST00000572467.1_Silent_p.T536T|CORO7_ENST00000423908.2_3'UTR	NM_024535.4	NP_078811.3			coronin 7											breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						TGGGCAGTGCCGTGTCGGGCA	0.687000													31	41					4.31634e-10	4.98981e-10	1	1	0
SSPO	23145	broad.mit.edu	37	7	149515171	149515171	+	RNA	SNP	C	C	A			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr7:149515171C>A	ENST00000378016.2	+	0	11561							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGCCGTGGGCCCCGCCAGGAC	0.697000													4	12					2.56e-06	2.80054e-06	1	1	0
CXCL9	4283	broad.mit.edu	37	4	76927300	76927300	+	Splice_Site	SNP	C	C	A			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr4:76927300C>A	ENST00000264888.5	-	2	230		c.e2+1			NM_002416.1	NP_002407.1	Q07325	CXCL9_HUMAN	chemokine (C-X-C motif) ligand 9						cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space	chemokine activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTGTTACTTACATGATTTCAA	0.418000													39	206					2.58029e-29	3.44743e-29	1	1	0
HSP90B1	7184	broad.mit.edu	37	12	104336420	104336420	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr12:104336420T>A	ENST00000299767.5	+	12	1672	c.1490T>A	c.(1489-1491)aTt>aAt	p.I497N		NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	497					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	CTTGGTGTGATTGAAGACCAC	0.393000													49	69					0	0	1	0	0
BACH2	60468	broad.mit.edu	37	6	90660232	90660232	+	Silent	SNP	G	G	A			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr6:90660232G>A	ENST00000257749.4	-	7	2300	c.1593C>T	c.(1591-1593)gaC>gaT	p.D531D	BACH2_ENST00000537989.1_Silent_p.D531D|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000343122.3_Silent_p.D531D|RP3-512E2.2_ENST00000445838.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	531						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CCCCGCTCCCGTCCTCCGCGT	0.622000													43	36					0	0	1	0	0
GUCA1A	2978	broad.mit.edu	37	6	42141509	42141509	+	Missense_Mutation	SNP	G	G	A	rs35243363		TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr6:42141509G>A	ENST00000394237.1	+	3	1134	c.158G>A	c.(157-159)aGc>aAc	p.S53N	GUCA1A_ENST00000372958.1_Missense_Mutation_p.S53N|GUCA1A_ENST00000541991.1_Missense_Mutation_p.S53N|GUCA1A_ENST00000053469.4_Missense_Mutation_p.S53N			P43080	GUC1A_HUMAN	guanylate cyclase activator 1A (retina)	53	EF-hand 2.				signal transduction|visual perception	membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCGTCGGCCAGCCAGTACGTG	0.577000													57	131					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38645403	38645403	+	RNA	SNP	T	T	C	rs72639552	by1000genomes	TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr10:38645403T>C	ENST00000494540.1	+	0	96					NR_003086.1																						TGGTTTTGATTACCGGGGCTA	0.617000													6	22					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130935791	130935791	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr12:130935791C>A	ENST00000261655.4	-	5	565	c.402G>T	c.(400-402)aaG>aaT	p.K134N	RIMBP2_ENST00000535703.1_Missense_Mutation_p.K42N|RIMBP2_ENST00000536002.1_Missense_Mutation_p.K42N	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	134						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GGAAGGTGGGCTTGGCGGACA	0.642000													16	128					4.14922e-12	4.93666e-12	1	1	0
ZNF737	100129842	broad.mit.edu	37	19	20727932	20727932	+	Silent	SNP	G	G	A	rs33926	by1000genomes	TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr19:20727932G>A	ENST00000427401.4	-	4	1171	c.1077C>T	c.(1075-1077)caC>caT	p.H359H		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	359					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						GAATTATCTTGTGTGTAGTAA	0.393000													4	25					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179599242	179599242	+	Silent	SNP	T	T	G			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr2:179599242T>G	ENST00000589042.1	-	52	15533	c.15309A>C	c.(15307-15309)ccA>ccC	p.P5103P	TTN_ENST00000591111.1_Silent_p.P4786P|TTN_ENST00000342992.6_Silent_p.P3859P|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000582847.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4786	Ig-like 31.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAATTTCAAATGGTCCAGTGC	0.388000													17	94					0	0	1	0	0
RGL3	57139	broad.mit.edu	37	19	11508235	11508235	+	Silent	SNP	G	G	A			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr19:11508235G>A	ENST00000380456.3	-	17	1848	c.1785C>T	c.(1783-1785)ttC>ttT	p.F595F	RGL3_ENST00000393423.3_Silent_p.F601F	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	595	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						GAGGCAAAGCGAAGGGCCGGG	0.657000													3	12					0	0	1	0	0
IGFBP1	3484	broad.mit.edu	37	7	45928336	45928336	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr7:45928336C>A	ENST00000275525.3	+	1	381	c.85C>A	c.(85-87)Cag>Aag	p.Q29K	IGFBP1_ENST00000468955.1_Missense_Mutation_p.Q29K|IGFBP1_ENST00000457280.1_Missense_Mutation_p.Q29K	NM_000596.2	NP_000587.1	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	29	IGFBP N-terminal.					extracellular space	insulin-like growth factor binding			large_intestine(2)|lung(4)	6						CGCTCCGTGGCAGTGCGCGCC	0.716000													4	14					0.150653	0.150653	1	1	0
TOM1L1	10040	broad.mit.edu	37	17	52978236	52978236	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr17:52978236G>A	ENST00000575882.1	+	1	363	c.10G>A	c.(10-12)Ggc>Agc	p.G4S	TOM1L1_ENST00000536554.1_5'UTR|TOM1L1_ENST00000445275.2_Missense_Mutation_p.G4S|TOM1L1_ENST00000572158.1_Missense_Mutation_p.G4S|TOM1L1_ENST00000348161.4_5'UTR|TOM1L1_ENST00000540336.1_5'UTR|TOM1L1_ENST00000575333.1_Missense_Mutation_p.G4S|TOM1L1_ENST00000570371.1_Missense_Mutation_p.G4S|TOM1L1_ENST00000572405.1_5'UTR	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	4					intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						CATGGCGTTTGGCAAGAGTCA	0.682000													21	124					0	0	1	0	0
C16orf58	64755	broad.mit.edu	37	16	31503396	31503396	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr16:31503396C>G	ENST00000327237.2	-	12	1282	c.1243G>C	c.(1243-1245)Gag>Cag	p.E415Q	C16orf58_ENST00000570164.1_Missense_Mutation_p.E413Q|C16orf58_ENST00000567994.1_Missense_Mutation_p.E370Q			Q96GQ5	CP058_HUMAN	chromosome 16 open reading frame 58	415						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						ACCCAGCTCTCTTTCTTAGGA	0.562000													4	44					0	0	1	0	0
SEC62	7095	broad.mit.edu	37	3	169710666	169710666	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr3:169710666C>T	ENST00000337002.4	+	8	1073	c.1015C>T	c.(1015-1017)Cgg>Tgg	p.R339W	SEC62_ENST00000480708.1_Missense_Mutation_p.R339W	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	339					cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						GGGGGGAGAACGGCATTCAGA	0.473000													9	53					0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20296499	20296499	+	Missense_Mutation	SNP	A	A	G			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr14:20296499A>G	ENST00000315947.1	+	1	892	c.892A>G	c.(892-894)Atg>Gtg	p.M298V	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GAAAGCTTCCATGAAAAAGGT	0.348000													11	46					0	0	1	0	0
SUCLG2	8801	broad.mit.edu	37	3	67451168	67451168	+	Silent	SNP	C	C	T			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr3:67451168C>T	ENST00000307227.5	-	10	1197	c.1170G>A	c.(1168-1170)gtG>gtA	p.V390V	SUCLG2_ENST00000493112.1_Silent_p.V390V	NM_003848.3	NP_003839.2	Q96I99	SUCB2_HUMAN	succinate-CoA ligase, GDP-forming, beta subunit	390					succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	10		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)	CAAGCCGGACCACCAGGGGCA	0.522000													36	99					0	0	1	0	0
SCRT2	85508	broad.mit.edu	37	20	644766	644766	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr20:644766G>T	ENST00000246104.6	-	2	1050	c.473C>A	c.(472-474)gCc>gAc	p.A158D	RP5-850E9.3_ENST00000488788.2_Intron	NM_033129.3	NP_149120.1	Q9NQ03	SCRT2_HUMAN	scratch family zinc finger 2	158					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|liver(1)|ovary(1)	3						GCCGCACTCGGCGCACGCGTG	0.801000													4	29					0.00909568	0.00926622	1	1	0
NLE1	54475	broad.mit.edu	37	17	33464656	33464656	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr17:33464656G>C	ENST00000442241.4	-	6	580	c.541C>G	c.(541-543)Ctc>Gtc	p.L181V	NLE1_ENST00000360831.5_Missense_Mutation_p.L139V|NLE1_ENST00000586869.1_5'UTR|NLE1_ENST00000593176.1_Intron	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	181						nucleolus				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				TCCCAGAGGAGAATCTGAAGG	0.587000													7	33					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117231994	117231994	+	Silent	SNP	C	C	G			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr7:117231994C>G	ENST00000003084.6	+	14	1905	c.1773C>G	c.(1771-1773)gtC>gtG	p.V591V	CFTR_ENST00000454343.1_Silent_p.V530V	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	591	ABC transporter 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	AAAGCTGTGTCTGTAAACTGA	0.264000									Cystic Fibrosis				27	44					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102482349	102482349	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr14:102482349C>T	ENST00000360184.4	+	36	7563	c.7399C>T	c.(7399-7401)Cgc>Tgc	p.R2467C		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2467					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CCAGGCCTGCCGCAACGTGGC	0.622000													10	33					0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5941723	5941723	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr12:5941723G>A	ENST00000356134.5	-	6	742	c.671C>T	c.(670-672)gCg>gTg	p.A224V	ANO2_ENST00000327087.8_Missense_Mutation_p.A223V|ANO2_ENST00000546188.1_Missense_Mutation_p.A224V	NM_001278596.1|NM_001278597.1	NP_001265525.1|NP_001265526.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	228						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CTGCAGAGCCGCGCTGAACTT	0.527000													12	40					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2953038	2953038	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr7:2953038C>T	ENST00000396946.4	-	22	3305	c.2902G>A	c.(2902-2904)Gcc>Acc	p.A968T		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	968					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CAGTAGAAGGCGCGTACCAGG	0.667000			Mis		DLBCL								18	72					0	0	1	0	0
EFCAB1	79645	broad.mit.edu	37	8	49642286	49642286	+	Missense_Mutation	SNP	T	T	C			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr8:49642286T>C	ENST00000433756.1	-	3	467	c.308A>G	c.(307-309)aAg>aGg	p.K103R	EFCAB1_ENST00000521002.1_Intron|EFCAB1_ENST00000262103.3_Missense_Mutation_p.K155R|EFCAB1_ENST00000523092.1_Missense_Mutation_p.K103R	NM_001142857.1	NP_001136329.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	155	EF-hand 2.						calcium ion binding			endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				TACCATTTTCTTCAGTGTTAT	0.328000													10	29					0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74575184	74575184	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr1:74575184T>A	ENST00000354431.4	-	5	952	c.761A>T	c.(760-762)gAa>gTa	p.E254V	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.E254V|LRRIQ3_ENST00000370909.2_Missense_Mutation_p.E146V|LRRIQ3_ENST00000468759.1_5'UTR	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	254										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CCATTTTGCTTCATATCCTCT	0.328000													9	27					0	0	1	0	0
SPAG16	79582	broad.mit.edu	37	2	214354753	214354753	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr2:214354753C>G	ENST00000331683.5	+	10	1104	c.1009C>G	c.(1009-1011)Cca>Gca	p.P337A	SPAG16_ENST00000374309.3_Missense_Mutation_p.P243A	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	337					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		AAGTCTTTCTCCAGCAAAATT	0.318000													4	54					0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156913871	156913871	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr1:156913871C>T	ENST00000368194.3	-	32	4130	c.3091G>A	c.(3091-3093)Gac>Aac	p.D1031N	ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.D407N|ARHGEF11_ENST00000361409.2_Missense_Mutation_p.D991N	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	991	PH.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ACTAGGAGGTCCTCCAGCAGC	0.572000													6	94					0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95168668	95168668	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr10:95168668C>T	ENST00000371501.4	-	7	727	c.605G>A	c.(604-606)cGc>cAc	p.R202H	MYOF_ENST00000358334.5_Missense_Mutation_p.R202H|MYOF_ENST00000359263.4_Missense_Mutation_p.R202H|MYOF_ENST00000371502.4_Missense_Mutation_p.R202H|MYOF_ENST00000371489.1_Missense_Mutation_p.R202H			Q9NZM1	MYOF_HUMAN	myoferlin	202	C2 2.|Necessary for interaction with EHD2.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CACTCGGACGCGGATCTGCAG	0.507000													26	144					0	0	1	0	0
GRAMD4	23151	broad.mit.edu	37	22	47054118	47054118	+	Silent	SNP	C	C	T	rs147577527		TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr22:47054118C>T	ENST00000406902.1	+	4	531	c.318C>T	c.(316-318)aaC>aaT	p.N106N	GRAMD4_ENST00000361034.3_Silent_p.N106N			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	106					apoptosis	integral to membrane|mitochondrial membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		AAGAAACCAACGCGGAGATGC	0.657000													17	65					0	0	1	0	0
SOWAHD	347454	broad.mit.edu	37	X	118893515	118893515	+	Silent	SNP	C	C	A			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chrX:118893515C>A	ENST00000343905.3	+	1	940	c.885C>A	c.(883-885)ggC>ggA	p.G295G		NM_001105576.2	NP_001099046.1	A6NJG2	ANR58_HUMAN	sosondowah ankyrin repeat domain family member D	295																	ACACCGCGGGCAGCCGGGTGG	0.657000													11	8					5.50884e-06	5.98627e-06	1	1	0
MYO18B	84700	broad.mit.edu	37	22	26164694	26164694	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr22:26164694C>G	ENST00000335473.7	+	4	1061	c.811C>G	c.(811-813)Caa>Gaa	p.Q271E	MYO18B_ENST00000407587.2_Missense_Mutation_p.Q271E|MYO18B_ENST00000536101.1_Missense_Mutation_p.Q271E	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	271						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GCCCCAAGCCCAAGGGCCCGG	0.622000													7	19					0	0	1	0	0
IGKV2-30	28919	broad.mit.edu	37	2	89544411	89544411	+	RNA	SNP	G	G	T			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr2:89544411G>T	ENST00000468494.1	-	0	242																											TATAAATTAGGCGCCTTGGAG	0.522000													42	184					1.30916e-28	1.73491e-28	1	1	0
LYPD3	27076	broad.mit.edu	37	19	43968551	43968551	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr19:43968551G>C	ENST00000244333.3	-	2	225	c.137C>G	c.(136-138)cCg>cGg	p.P46R		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	46	UPAR/Ly6 1.					anchored to plasma membrane		p.P46L(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				CATCTTGTTCGGGGAGCATCC	0.657000													7	24					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37617514	37617514	+	Missense_Mutation	SNP	C	C	T	rs144551122		TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr21:37617514C>T	ENST00000399151.3	+	19	3321	c.3236C>T	c.(3235-3237)cCg>cTg	p.P1079L		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1079					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GAGAAGTACCCGCTGCGAGGC	0.642000													16	40					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24508697	24508697	+	Silent	SNP	G	G	A	rs141733021		TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr10:24508697G>A	ENST00000376454.3	+	2	243	c.213G>A	c.(211-213)ggG>ggA	p.G71G	KIAA1217_ENST00000458595.1_Silent_p.G71G|KIAA1217_ENST00000376452.3_Silent_p.G71G|KIAA1217_ENST00000376462.1_5'UTR	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	71					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CCCTAGGGGGGCCCCGAAGTT	0.512000													16	113					0	0	1	0	0
TRGC1	6966	broad.mit.edu	37	7	38305160	38305160	+	RNA	SNP	C	C	A			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr7:38305160C>A	ENST00000443402.2	-	0	119					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1																					ATCTTAATAACATCAGGGAAA	0.413000													91	140					7.0627e-44	9.75611e-44	1	1	0
PVRL1	5818	broad.mit.edu	37	11	119549226	119549226	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr11:119549226C>G	ENST00000264025.3	-	2	859	c.329G>C	c.(328-330)cGc>cCc	p.R110P	PVRL1_ENST00000341398.2_Missense_Mutation_p.R110P|PVRL1_ENST00000524510.1_5'UTR|PVRL1_ENST00000340882.2_Missense_Mutation_p.R110P	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	110	Ig-like V-type.				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GCGGGAGAGGCGGATAGTGCC	0.597000													52	50					0	0	1	0	0
CCR2	729230	broad.mit.edu	37	3	46399338	46399338	+	Missense_Mutation	SNP	T	T	C			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr3:46399338T>C	ENST00000292301.4	+	2	805	c.320T>C	c.(319-321)gTc>gCc	p.V107A	CCR2_ENST00000400888.2_Missense_Mutation_p.V107A|CCR2_ENST00000465202.1_Intron|CCR2_ENST00000445132.2_Missense_Mutation_p.V107A	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	107					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		AATGAGTGGGTCTTTGGGAAT	0.443000													130	75					0	0	1	0	0
AMBP	259	broad.mit.edu	37	9	116837266	116837266	+	Missense_Mutation	SNP	T	T	C			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr9:116837266T>C	ENST00000265132.3	-	3	573	c.311A>G	c.(310-312)gAt>gGt	p.D104G		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	104					cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	AAACTTCCCATCAGTATCTGT	0.433000													30	21					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30704569	30704569	+	Silent	SNP	T	T	A			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr8:30704569T>A	ENST00000256246.2	-	1	2039	c.1965A>T	c.(1963-1965)tcA>tcT	p.S655S		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	655										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ATGATTCTTGTGATTTATTTT	0.294000													8	40					0	0	1	0	0
EBI3	10148	broad.mit.edu	37	19	4233283	4233283	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr19:4233283C>T	ENST00000221847.5	+	3	411	c.358C>T	c.(358-360)Cct>Tct	p.P120S		NM_005755.2	NP_005746.2	Q14213	IL27B_HUMAN	Epstein-Barr virus induced 3	120	Fibronectin type-III 1.				humoral immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of interferon-gamma biosynthetic process|T-helper 1 type immune response	extracellular space|plasma membrane	cytokine activity|cytokine receptor activity			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCTTCGTGCCTTTCATAAC	0.662000													4	32					0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	72998479	72998479	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr18:72998479G>C	ENST00000322038.5	+	2	1566	c.982G>C	c.(982-984)Gag>Cag	p.E328Q	TSHZ1_ENST00000580243.1_Missense_Mutation_p.E373Q	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	373						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		AATGGCCGCAGAGGTGGCCCT	0.627000													25	42					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25488582	25488582	+	RNA	SNP	A	A	T			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr15:25488582A>T	ENST00000453082.2	+	0	2210					NR_003343.1																						AGATGGTGAGACGGGAGGAAG	0.602000													10	20					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144993135	144993135	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr8:144993135C>T	ENST00000322810.4	-	32	11434	c.11265G>A	c.(11263-11265)atG>atA	p.M3755I	PLEC_ENST00000354958.2_Missense_Mutation_p.M3596I|PLEC_ENST00000436759.2_Missense_Mutation_p.M3645I|PLEC_ENST00000354589.3_Missense_Mutation_p.M3618I|PLEC_ENST00000398774.2_Missense_Mutation_p.M3586I|PLEC_ENST00000356346.3_Missense_Mutation_p.M3604I|PLEC_ENST00000527096.1_Missense_Mutation_p.M3641I|PLEC_ENST00000357649.2_Missense_Mutation_p.M3622I|PLEC_ENST00000345136.3_Missense_Mutation_p.M3618I	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3755	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGATGATGATCATGCGTTCCT	0.622000													20	119					0	0	1	0	0
OR4C6	219432	broad.mit.edu	37	11	55432967	55432967	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr11:55432967G>T	ENST00000314259.3	+	1	354	c.325G>T	c.(325-327)Ggg>Tgg	p.G109W		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TGGTGGTGTGGGGATCATCCT	0.542000													36	69					9.17885e-22	1.18742e-21	1	1	0
STK11	6794	broad.mit.edu	37	19	1207168	1207168	+	Nonsense_Mutation	SNP	C	C	T			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr19:1207168C>T	ENST00000326873.7	+	1	1429	c.256C>T	c.(256-258)Cga>Tga	p.R86*	STK11_ENST00000585748.1_Intron	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	86	Protein kinase.		R -> G (in sporadic cancer; somatic mutation; no effect on kinase activity nor in heterotrimeric complex assembly with STRADA and CAB39).		anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(3)|p.R86G(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAGAAGTTGCGAAGGATCCC	0.612000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			15	15					0	0	1	0	0
C17orf70	80233	broad.mit.edu	37	17	79514392	79514392	+	Silent	SNP	G	G	A			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr17:79514392G>A	ENST00000537152.1	-	5	1788	c.1263C>T	c.(1261-1263)ctC>ctT	p.L421L	C17orf70_ENST00000425898.2_Silent_p.L221L|C17orf70_ENST00000327787.8_Silent_p.L572L	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	572					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CACCGGGGCCGAGCTGGTCCA	0.682000													24	120					0	0	1	0	0
DIRAS2	54769	broad.mit.edu	37	9	93375522	93375522	+	Nonsense_Mutation	SNP	G	G	T			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr9:93375522G>T	ENST00000375765.3	-	2	976	c.588C>A	c.(586-588)tgC>tgA	p.C196*		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	196					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						ACATGATCACGCACTTGCCTT	0.562000													24	41					9.57634e-11	1.12298e-10	1	1	0
HERC2	8924	broad.mit.edu	37	15	28359842	28359842	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr15:28359842C>G	ENST00000261609.7	-	90	13937	c.13829G>C	c.(13828-13830)gGc>gCc	p.G4610A		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4610	HECT.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AATGTCCTGGCCACTGGCACT	0.532000													19	66					0	0	1	0	0
SPATA18	132671	broad.mit.edu	37	4	52945015	52945015	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr4:52945015G>T	ENST00000295213.4	+	8	1509	c.1135G>T	c.(1135-1137)Gtc>Ttc	p.V379F	SPATA18_ENST00000419395.2_Missense_Mutation_p.V347F	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	379					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			CTTGGATTATGTCATTTGTCA	0.383000													22	82					5.26018e-13	6.35118e-13	1	1	0
C7	730	broad.mit.edu	37	5	40945415	40945415	+	Nonsense_Mutation	SNP	C	C	A			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr5:40945415C>A	ENST00000313164.9	+	7	1042	c.683C>A	c.(682-684)tCa>tAa	p.S228*		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	228	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				TTTAGATCTTCATCATCTTCT	0.313000													17	20					0.00741294	0.00764752	1	1	0
STAMBPL1	57559	broad.mit.edu	37	10	90665309	90665309	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr10:90665309C>T	ENST00000371927.3	+	3	1098	c.140C>T	c.(139-141)aCt>aTt	p.T47I	STAMBPL1_ENST00000371924.1_Missense_Mutation_p.T47I|STAMBPL1_ENST00000371926.3_Missense_Mutation_p.T47I			Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	47							metal ion binding|metallopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		GAAGACATCACTCCACGACGT	0.443000													33	105					0	0	1	0	0
MRPS18C	51023	broad.mit.edu	37	4	84377239	84377239	+	Silent	SNP	T	T	C			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr4:84377239T>C	ENST00000295491.4	+	1	122	c.9T>C	c.(7-9)gcT>gcC	p.A3A	MRPS18C_ENST00000507019.1_Silent_p.A3A|MRPS18C_ENST00000507349.1_Silent_p.A3A	NM_016067.2	NP_057151.1	Q9Y3D5	RT18C_HUMAN	mitochondrial ribosomal protein S18C	3					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5		Hepatocellular(203;0.114)				CCATGGCCGCTGTGGTTGCTG	0.562000													158	174					0	0	1	0	0
SLC27A4	10999	broad.mit.edu	37	9	131107509	131107509	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr9:131107509G>T	ENST00000300456.3	+	3	354	c.237G>T	c.(235-237)ttG>ttT	p.L79F	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	79					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						TGCCCATTTTGTTTGCCTCTA	0.607000													22	16					2.21704e-12	2.65718e-12	1	1	0
C6	729	broad.mit.edu	37	5	41201723	41201723	+	Silent	SNP	G	G	T			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr5:41201723G>T	ENST00000263413.3	-	3	501	c.237C>A	c.(235-237)ccC>ccA	p.P79P	C6_ENST00000337836.5_Silent_p.P79P	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	79	TSP type-1 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GGCAGTTGATGGGGCATCTTT	0.428000													14	52					1.5842e-08	1.80577e-08	1	1	0
BAZ2A	11176	broad.mit.edu	37	12	56996626	56996626	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr12:56996626G>A	ENST00000179765.5	-	20	3404	c.3205C>T	c.(3205-3207)Cgc>Tgc	p.R1069C	BAZ2A_ENST00000551812.1_Missense_Mutation_p.R1101C|BAZ2A_ENST00000549884.1_Missense_Mutation_p.R1099C|BAZ2A_ENST00000379441.3_Missense_Mutation_p.R1071C			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1101					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						AGCTTTTTGCGAAAGAAAAGC	0.473000													10	21					0	0	1	0	0
SF1	7536	broad.mit.edu	37	11	64537876	64537876	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr11:64537876G>A	ENST00000377390.3	-	4	578	c.241C>T	c.(241-243)Cct>Tct	p.P81S	SF1_ENST00000334944.5_Missense_Mutation_p.P81S|SF1_ENST00000377387.1_Missense_Mutation_p.P206S|SF1_ENST00000377394.3_Missense_Mutation_p.P81S|SF1_ENST00000433274.2_Missense_Mutation_p.P55S|SF1_ENST00000422298.2_5'UTR|SF1_ENST00000227503.9_Missense_Mutation_p.P81S	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	81					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						TCAGGGGAAGGGGACCTGTGG	0.552000													33	66					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7709482	7709482	+	Silent	SNP	C	C	T			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr5:7709482C>T	ENST00000338316.4	+	10	1649	c.1560C>T	c.(1558-1560)aaC>aaT	p.N520N	ADCY2_ENST00000537121.1_Silent_p.N340N|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	520					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CCACAGAGAACGGCAAGATCA	0.587000													18	40					0	0	1	0	0
TNRC6B	23112	broad.mit.edu	37	22	40711500	40711500	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr22:40711500G>T	ENST00000454349.2	+	20	5103	c.4892G>T	c.(4891-4893)cGg>cTg	p.R1631L	TNRC6B_ENST00000402203.1_Missense_Mutation_p.R827L|TNRC6B_ENST00000301923.9_Missense_Mutation_p.R827L|TNRC6B_ENST00000335727.8_Missense_Mutation_p.R1521L	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1631					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						CAGGACTCACGGCTCGCCTCG	0.582000													35	41					2.51541e-25	3.30655e-25	1	1	0
OR2W5	441932	broad.mit.edu	37	1	247654908	247654908	+	RNA	SNP	G	G	A			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr1:247654908G>A	ENST00000522351.1	+	0	539							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TTCATCATGTGTCCTCAGACG	0.572000													25	105					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179604574	179604574	+	Silent	SNP	A	A	T			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr2:179604574A>T	ENST00000589042.1	-	48	13610	c.13386T>A	c.(13384-13386)gtT>gtA	p.V4462V	TTN_ENST00000591111.1_Silent_p.V4145V|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Silent_p.V4291V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.V4099V|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Silent_p.V4224V|TTN-AS1_ENST00000582847.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4145	Ig-like 24.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGAGGATCAACATCTTCAA	0.403000													11	146					0	0	1	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102522022	102522022	+	Splice_Site	SNP	G	G	A			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr5:102522022G>A	ENST00000321521.9	+	27	3744	c.3169_splice	c.e27-1	p.G1057_splice	PPIP5K2_ENST00000414217.1_Splice_Site_p.G1057_splice|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000358359.3_Splice_Site_p.G1057_splice			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	1057					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TCCCATCAGGGTCTCACTGTG	0.468000													20	14					0	0	1	0	0
TBX18	9096	broad.mit.edu	37	6	85446454	85446454	+	Silent	SNP	G	G	T			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr6:85446454G>T	ENST00000369663.5	-	8	2110	c.1773C>A	c.(1771-1773)acC>acA	p.T591T	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	591					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.T591T(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		AGCTTCCTAGGGTCCTAGAGT	0.468000													37	23					6.53348e-20	8.31997e-20	1	1	0
FCHSD2	9873	broad.mit.edu	37	11	72554509	72554509	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr11:72554509C>A	ENST00000409314.1	-	16	1752	c.1584G>T	c.(1582-1584)atG>atT	p.M528I	FCHSD2_ENST00000409418.4_Missense_Mutation_p.M504I|FCHSD2_ENST00000409263.1_5'UTR|FCHSD2_ENST00000311172.7_Missense_Mutation_p.M448I|FCHSD2_ENST00000458644.2_Missense_Mutation_p.M368I|FCHSD2_ENST00000409853.1_Missense_Mutation_p.M448I|ATG16L2_ENST00000534905.1_3'UTR			O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	504	SH3 1.						protein binding			endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			CCCAGTCTTCCATATCTCCAT	0.403000													12	94					0.00185496	0.00192585	1	1	0
TPD52L3	89882	broad.mit.edu	37	9	6328954	6328954	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr9:6328954C>A	ENST00000344545.5	+	1	606	c.359C>A	c.(358-360)tCt>tAt	p.S120Y	TPD52L3_ENST00000314556.3_Missense_Mutation_p.S120Y|TPD52L3_ENST00000381428.1_Missense_Mutation_p.S120Y	NM_033516.5	NP_277051.3	Q96J77	TPD55_HUMAN	tumor protein D52-like 3	120							protein binding			large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		ACATTCAGATCTTTTGAAGGT	0.517000													17	113					5.03518e-11	5.94735e-11	1	1	0
HSD17B4	3295	broad.mit.edu	37	5	118861719	118861719	+	Splice_Site	SNP	G	G	C			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr5:118861719G>C	ENST00000504811.1	+	20	1939		c.e20+1		HSD17B4_ENST00000256216.6_Splice_Site|HSD17B4_ENST00000509514.1_Splice_Site|HSD17B4_ENST00000522415.1_Splice_Site|HSD17B4_ENST00000510025.1_Splice_Site|HSD17B4_ENST00000513628.1_Splice_Site|HSD17B4_ENST00000414835.2_Splice_Site|HSD17B4_ENST00000515320.1_Splice_Site	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4						bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	GGCAATTAAGGTAAATGTGTA	0.318000													7	66					0	0	1	0	0
KDM4C	23081	broad.mit.edu	37	9	6986621	6986621	+	Silent	SNP	C	C	A			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr9:6986621C>A	ENST00000381309.3	+	11	2197	c.1632C>A	c.(1630-1632)atC>atA	p.I544I	KDM4C_ENST00000535193.1_Silent_p.I566I|KDM4C_ENST00000536108.1_Silent_p.I363I|KDM4C_ENST00000428870.2_Silent_p.I231I|KDM4C_ENST00000442236.2_Intron|KDM4C_ENST00000381306.3_Silent_p.I544I|KDM4C_ENST00000543771.1_Silent_p.I544I	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	544					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						CTGGGGAAATCCCAGCGGTCC	0.463000													29	43					1.13719e-10	1.32401e-10	1	1	0
LOC440040	440040	broad.mit.edu	37	11	49805519	49805519	+	RNA	SNP	C	C	G			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr11:49805519C>G	ENST00000527477.1	+	0	1207																											AGTCACTTGCCCAAGGCCCGG	0.542000													27	33					0	0	1	0	0
DOCK10	55619	broad.mit.edu	37	2	225750510	225750510	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr2:225750510G>A	ENST00000409592.3	-	7	720	c.607C>T	c.(607-609)Cgc>Tgc	p.R203C	DOCK10_ENST00000258390.7_Missense_Mutation_p.R209C			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	209	PH.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TGGAAGTAGCGCTTTTTGAAT	0.318000													12	42					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125204491	125204491	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr2:125204491G>T	ENST00000431078.1	+	6	1259	c.895G>T	c.(895-897)Gat>Tat	p.D299Y		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	299	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGGCGAGACGGATGCCTTAGA	0.557000													46	59					1.7489e-18	2.17612e-18	1	1	0
GPR88	54112	broad.mit.edu	37	1	101004789	101004789	+	Silent	SNP	G	G	T	rs80032519		TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr1:101004789G>T	ENST00000315033.4	+	2	706	c.267G>T	c.(265-267)gcG>gcT	p.A89A		NM_022049.2	NP_071332.2	Q9GZN0	GPR88_HUMAN	G protein-coupled receptor 88	89						integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(2)|skin(1)	3		all_epithelial(167;1.19e-05)|all_lung(203;0.00159)|Lung NSC(277;0.00171)		Epithelial(280;0.0372)|all cancers(265;0.0558)|COAD - Colon adenocarcinoma(174;0.141)|Colorectal(144;0.156)|Lung(183;0.189)		CGCAGGAGGCGGTGCTCGGGC	0.716000													3	13					0.115264	0.115976	1	1	0
ID2	3398	broad.mit.edu	37	2	8822344	8822344	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr2:8822344G>A	ENST00000234091.4	+	3	909	c.49G>A	c.(49-51)Gac>Aac	p.D17N	ID2_ENST00000396290.1_Missense_Mutation_p.D17N|ID2_ENST00000331129.3_Missense_Mutation_p.D17N			Q02363	ID2_HUMAN	inhibitor of DNA binding 2, dominant negative helix-loop-helix protein	17					cellular senescence|embryonic digestive tract morphogenesis|endodermal digestive tract morphogenesis|epithelial cell differentiation involved in mammary gland alveolus development|mammary gland epithelial cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of neuron differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|neuron fate commitment|positive regulation of blood pressure|positive regulation of cell cycle arrest|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent	protein complex	protein binding			breast(1)|large_intestine(1)|lung(1)|prostate(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CAGCCTGTCGGACCACAGCCT	0.597000													51	77					0	0	1	0	0
CPLX4	339302	broad.mit.edu	37	18	56964066	56964066	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr18:56964066T>A	ENST00000299721.3	-	3	533	c.347A>T	c.(346-348)gAg>gTg	p.E116V	CPLX4_ENST00000587244.1_Intron	NM_181654.3	NP_857637.1	Q7Z7G2	CPLX4_HUMAN	complexin 4	116					exocytosis|neurotransmitter transport	cell junction|synapse	syntaxin binding			autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16		Colorectal(73;0.175)				ATCTTCTTCCTCTTCTTGATC	0.403000													4	21					0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5811619	5811619	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chrX:5811619G>T	ENST00000381095.3	-	6	2317	c.1690C>A	c.(1690-1692)Ccc>Acc	p.P564T	NLGN4X_ENST00000381092.1_Missense_Mutation_p.P564T|NLGN4X_ENST00000275857.6_Missense_Mutation_p.P564T|NLGN4X_ENST00000538097.1_Missense_Mutation_p.P564T|NLGN4X_ENST00000381093.2_Missense_Mutation_p.P584T	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	564					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TGGTCTTTGGGATTATACTTG	0.458000													61	27					1.55545e-33	2.13057e-33	1	1	0
PNPLA7	375775	broad.mit.edu	37	9	140414421	140414421	+	Silent	SNP	G	G	A			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr9:140414421G>A	ENST00000406427.1	-	11	1368	c.1032C>T	c.(1030-1032)ggC>ggT	p.G344G	PNPLA7_ENST00000277531.4_Silent_p.G319G	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	319					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GCTCTTCTTCGCCATAGAACA	0.597000													14	164					0	0	1	0	0
OR52B6	340980	broad.mit.edu	37	11	5602993	5602993	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr11:5602993T>A	ENST00000345043.2	+	1	887	c.887T>A	c.(886-888)cTg>cAg	p.L296Q	AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATATTCTCCTGGCCAGCCTC	0.463000													82	132					0	0	1	0	0
CPLX4	339302	broad.mit.edu	37	18	56964067	56964067	+	Nonsense_Mutation	SNP	C	C	A			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr18:56964067C>A	ENST00000299721.3	-	3	532	c.346G>T	c.(346-348)Gag>Tag	p.E116*	CPLX4_ENST00000587244.1_Intron	NM_181654.3	NP_857637.1	Q7Z7G2	CPLX4_HUMAN	complexin 4	116					exocytosis|neurotransmitter transport	cell junction|synapse	syntaxin binding			autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16		Colorectal(73;0.175)				TCTTCTTCCTCTTCTTGATCT	0.398000													4	21					0.00909568	0.00926622	1	1	0
NANS	54187	broad.mit.edu	37	9	100845292	100845292	+	Silent	SNP	C	C	T			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr9:100845292C>T	ENST00000210444.5	+	6	1105	c.1035C>T	c.(1033-1035)atC>atT	p.I345I	NANS_ENST00000461452.1_3'UTR|TRIM14_ENST00000375098.3_Intron|TRIM14_ENST00000478530.1_Intron	NM_018946.3	NP_061819.2	Q9NR45	SIAS_HUMAN	N-acetylneuraminic acid synthase	345	AFP-like.				lipopolysaccharide biosynthetic process	cytoplasm	N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				ATGACACCATCATGGAAGAAT	0.438000													12	39					0	0	1	0	0
LINGO3	645191	broad.mit.edu	37	19	2291237	2291237	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr19:2291237G>A	ENST00000585527.1	-	1	786	c.539C>T	c.(538-540)aCc>aTc	p.T180I	LINGO3_ENST00000404279.1_Missense_Mutation_p.T180I			P0C6S8	LIGO3_HUMAN	leucine rich repeat and Ig domain containing 3	180						integral to membrane				lung(1)|urinary_tract(1)	2						GCGCTCCAGGGTCAGCTCCTC	0.721000													7	12					0	0	1	0	0
SLC26A1	10861	broad.mit.edu	37	4	973209	973209	+	Silent	SNP	C	C	T			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr4:973209C>T	ENST00000398520.2	-	3	762	c.660G>A	c.(658-660)gaG>gaA	p.E220E		NM_134425.1	NP_602297.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	0						integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			aagatctttcctcctcttcca	0.522000													7	19					0	0	1	0	0
AGBL5	60509	broad.mit.edu	37	2	27278976	27278976	+	Silent	SNP	C	C	T			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr2:27278976C>T	ENST00000360131.4	+	7	1494	c.1335C>T	c.(1333-1335)taC>taT	p.Y445Y	AGBL5_ENST00000323064.8_Silent_p.Y445Y	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	445					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTTCATGTACGGAAACAGCT	0.498000													34	192					0	0	1	0	0
OSTN	344901	broad.mit.edu	37	3	190967907	190967907	+	Silent	SNP	C	C	A			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr3:190967907C>A	ENST00000339051.1	+	3	399	c.399C>A	c.(397-399)ggC>ggA	p.G133G	OSTN_ENST00000445281.1_Intron	NM_198184.1	NP_937827.1	P61366	OSTN_HUMAN	osteocrin	133					cell differentiation|multicellular organismal development|ossification		hormone activity			kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|skin(2)	13	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)		ATTCCAGAGGCTAATTGATTC	0.363000													10	48					1.76689e-08	2.00003e-08	1	1	0
LAMC3	10319	broad.mit.edu	37	9	133967109	133967109	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr9:133967109G>C	ENST00000361069.4	+	28	4796	c.4663G>C	c.(4663-4665)Gcc>Ccc	p.A1555P	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1555	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CGAGATCCGCGCCGACAAACA	0.642000													19	12					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7494379	7494379	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr3:7494379C>A	ENST00000486284.1	+	6	1534	c.1260C>A	c.(1258-1260)caC>caA	p.H420Q	GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000403881.1_Missense_Mutation_p.H420Q|GRM7_ENST00000402647.2_Missense_Mutation_p.H420Q|GRM7_ENST00000389336.4_Missense_Mutation_p.H420Q|GRM7_ENST00000357716.4_Missense_Mutation_p.H420Q	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	420					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	CTATGGCTCACGCCCTTCACC	0.488000													10	63					0.000442599	0.000465443	1	1	0
GPR112	139378	broad.mit.edu	37	X	135429204	135429204	+	Silent	SNP	A	A	T			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chrX:135429204A>T	ENST00000394143.1	+	6	3630	c.3339A>T	c.(3337-3339)tcA>tcT	p.S1113S	GPR112_ENST00000412101.1_Silent_p.S908S|GPR112_ENST00000394141.1_Silent_p.S908S|GPR112_ENST00000370652.1_Silent_p.S1113S|GPR112_ENST00000287534.4_Silent_p.S1050S	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1113					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CATTTCATTCACTGAGACTCT	0.483000													94	45					0	0	1	0	0
INPP4A	3631	broad.mit.edu	37	2	99162498	99162498	+	Missense_Mutation	SNP	A	A	G			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr2:99162498A>G	ENST00000074304.5	+	12	1409	c.1016A>G	c.(1015-1017)cAc>cGc	p.H339R	INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000523221.1_Missense_Mutation_p.H339R|INPP4A_ENST00000409540.3_Missense_Mutation_p.H339R|INPP4A_ENST00000409016.3_Missense_Mutation_p.H339R|INPP4A_ENST00000545415.1_Missense_Mutation_p.H339R|INPP4A_ENST00000409851.3_Missense_Mutation_p.H339R	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	339					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						ACAAACTTGCACATACAAAGG	0.408000													6	6					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54306851	54306851	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr15:54306851G>T	ENST00000545554.1	+	1	1751	c.1751G>T	c.(1750-1752)cGg>cTg	p.R584L	UNC13C_ENST00000260323.11_Missense_Mutation_p.R584L|UNC13C_ENST00000537900.1_Missense_Mutation_p.R584L			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	584					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TCTTCGGACCGGGAGCTATGG	0.453000													12	54					0.00185496	0.00192585	1	1	0
RPLP0P6	220717	broad.mit.edu	37	2	38709784	38709784	+	RNA	SNP	T	T	G	rs112482681		TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr2:38709784T>G	ENST00000417039.1	-	0	696																											TTGCTGAAAATGTCAAGGCCT	0.552000													4	64					0	0	1	0	0
TICRR	90381	broad.mit.edu	37	15	90168929	90168929	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr15:90168929T>A	ENST00000268138.7	+	20	5493	c.5388T>A	c.(5386-5388)gaT>gaA	p.D1796E	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Missense_Mutation_p.D1795E					TOPBP1-interacting checkpoint and replication regulator																		TGAGAGAAGATTCAGAAGTTA	0.512000													22	69					0	0	1	0	0
CEACAM8	1088	broad.mit.edu	37	19	43093607	43093607	+	Splice_Site	SNP	A	A	G			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr19:43093607A>G	ENST00000244336.5	-	3	805		c.e3+1		LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|CEACAM8_ENST00000599005.1_Intron	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8						immune response	anchored to membrane|extracellular space|integral to plasma membrane				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				GAAGATACTCACAGAGGACAT	0.527000													76	54					0	0	1	0	0
ALOX15	246	broad.mit.edu	37	17	4536185	4536185	+	Missense_Mutation	SNP	T	T	C			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr17:4536185T>C	ENST00000570836.1	-	12	1607	c.1511A>G	c.(1510-1512)gAa>gGa	p.E504G	ALOX15_ENST00000293761.3_Missense_Mutation_p.E504G|ALOX15_ENST00000545513.1_Missense_Mutation_p.E526G|ALOX15_ENST00000574640.1_Missense_Mutation_p.E465G			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	504	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	CAGCCCGATTTCAGTGATCTC	0.552000													20	107					0	0	1	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4924871	4924871	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chrY:4924871A>T	ENST00000362095.5	+	1	741	c.7A>T	c.(7-9)Agg>Tgg	p.R3W	PCDH11Y_ENST00000333703.4_Intron|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.R3W	NM_032972.2	NP_116754.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	3					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ATGCATGTTTAGGGTTGGCTT	0.328000													15	31					0	0	1	0	0
CXCR2	3579	broad.mit.edu	37	2	219000466	219000466	+	Nonsense_Mutation	SNP	C	C	A	rs143174409	by1000genomes	TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr2:219000466C>A	ENST00000318507.2	+	3	1369	c.942C>A	c.(940-942)taC>taA	p.Y314*		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	314					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						CCCTCATCTACGCCTTCATTG	0.557000													59	85					2.2129e-31	3.00585e-31	1	1	0
LLGL2	3993	broad.mit.edu	37	17	73559442	73559442	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr17:73559442G>A	ENST00000392550.3	+	8	841	c.724G>A	c.(724-726)Ggc>Agc	p.G242S	LLGL2_ENST00000167462.5_Missense_Mutation_p.G242S|LLGL2_ENST00000375227.4_Missense_Mutation_p.G242S|LLGL2_ENST00000577200.1_Missense_Mutation_p.G242S|LLGL2_ENST00000578363.1_Missense_Mutation_p.G242S	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	242					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			GCAGCGGGACGGCCGCCTGCT	0.662000													8	54					0	0	1	0	0
ADCYAP1	116	broad.mit.edu	37	18	905451	905451	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr18:905451G>A	ENST00000579794.1	+	1	342	c.64G>A	c.(64-66)Gtc>Atc	p.V22I	RP11-672L10.2_ENST00000577358.1_RNA|ADCYAP1_ENST00000450565.3_Missense_Mutation_p.V22I|RP11-672L10.3_ENST00000582554.1_RNA|RP11-672L10.2_ENST00000581719.1_RNA	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary)	22					activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						GCACAGCAGCGTCTACAGCTC	0.632000													25	67					0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104065532	104065532	+	Nonsense_Mutation	SNP	C	C	A			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr4:104065532C>A	ENST00000265148.3	-	33	5190	c.5101G>T	c.(5101-5103)Gag>Tag	p.E1701*	CENPE_ENST00000380026.3_Nonsense_Mutation_p.E1676*	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1701					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGGTCTCTCTCTACTTTGAGA	0.383000													16	61					7.07596e-05	7.63829e-05	1	1	0
CCDC85A	114800	broad.mit.edu	37	2	56420302	56420302	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr2:56420302G>T	ENST00000407595.2	+	2	1469	c.967G>T	c.(967-969)Ggg>Tgg	p.G323W	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	323	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GCACCGGTCAGGGAGCAGCCC	0.652000													35	116					5.71845e-15	7.06142e-15	1	1	0
CCDC37	348807	broad.mit.edu	37	3	126154464	126154464	+	Missense_Mutation	SNP	G	G	A	rs141719598	byFrequency	TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr3:126154464G>A	ENST00000393425.1	+	16	1793	c.1694G>A	c.(1693-1695)cGg>cAg	p.R565Q	CCDC37_ENST00000506204.1_3'UTR|CCDC37_ENST00000505024.1_Missense_Mutation_p.R565Q|CCDC37_ENST00000352312.1_Missense_Mutation_p.R564Q			Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	564										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		CAGCGGGCCCGGGCGCGCGCC	0.602000													4	41					0	0	1	0	0
PJA2	9867	broad.mit.edu	37	5	108719110	108719110	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr5:108719110G>A	ENST00000361189.2	-	2	264	c.25C>T	c.(25-27)Cca>Tca	p.P9S	PJA2_ENST00000361557.3_Missense_Mutation_p.P9S|PJA2_ENST00000511624.1_5'UTR	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	9					long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		ttacctgctggctccttttca	0.403000													18	66					0	0	1	0	0
ZNF771	51333	broad.mit.edu	37	16	30429202	30429202	+	Silent	SNP	C	C	T			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr16:30429202C>T	ENST00000319296.5	+	3	845	c.468C>T	c.(466-468)ttC>ttT	p.F156F	ZNF771_ENST00000434417.1_Silent_p.F156F|ZNF771_ENST00000566625.1_Intron			Q7L3S4	ZN771_HUMAN	zinc finger protein 771	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							Colorectal(24;0.193)			GCCGCCGCTTCGCGCAGAGCT	0.716000													4	7					0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28631552	28631552	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr13:28631552C>T	ENST00000380982.4	-	4	497	c.416G>A	c.(415-417)gGa>gAa	p.G139E	FLT3_ENST00000241453.7_Missense_Mutation_p.G139E|FLT3_ENST00000537084.1_Missense_Mutation_p.G139E			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	139					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TAGGTATTCTCCAGCTTGGGT	0.358000			"""Mis, O"""		"""AML, ALL"""								6	48					0	0	1	0	0
SNCB	6620	broad.mit.edu	37	5	176053493	176053493	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr5:176053493G>T	ENST00000310112.3	-	5	438	c.188C>A	c.(187-189)gCc>gAc	p.A63D	SNCB_ENST00000506696.1_Missense_Mutation_p.A63D|SNCB_ENST00000510387.1_Missense_Mutation_p.A63D|SNCB_ENST00000393693.2_Missense_Mutation_p.A63D	NM_001001502.1	NP_001001502.1	Q16143	SYUB_HUMAN	synuclein, beta	63	4 X 11 AA tandem repeats of [EGS]-K-T-K- [EQ]-[GQ]-V-X(4).						calcium ion binding|phospholipase inhibitor activity			breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGATGTGAGGCCTGTTCCTT	0.572000													38	24					1.57351e-24	2.05186e-24	1	1	0
FGFR2	2263	broad.mit.edu	37	10	123258034	123258034	+	Missense_Mutation	SNP	A	A	T	rs121913476		TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr10:123258034A>T	ENST00000358487.5	-	12	1919	c.1647T>A	c.(1645-1647)aaT>aaA	p.N549K	FGFR2_ENST00000360144.3_Missense_Mutation_p.N461K|FGFR2_ENST00000346997.2_Missense_Mutation_p.N547K|FGFR2_ENST00000369061.4_Missense_Mutation_p.N437K|FGFR2_ENST00000351936.6_Missense_Mutation_p.N547K|FGFR2_ENST00000457416.2_Missense_Mutation_p.N550K|FGFR2_ENST00000478859.1_Missense_Mutation_p.N321K|FGFR2_ENST00000369060.4_Missense_Mutation_p.N433K|FGFR2_ENST00000357555.5_Missense_Mutation_p.N460K|FGFR2_ENST00000356226.4_Missense_Mutation_p.N432K|FGFR2_ENST00000369056.1_Missense_Mutation_p.N550K|FGFR2_ENST00000369059.1_Missense_Mutation_p.N435K	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	549	Protein kinase.		N -> H (in CS).		angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	p.N549K(21)|p.N547K(4)|p.N460K(4)|p.N550K(4)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	CTCCAAGAAGATTTATGATAT	0.423000	N549K(AN3CA_ENDOMETRIUM)|N549K(MFE296_ENDOMETRIUM)	5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				18	45					0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247751693	247751693	+	Missense_Mutation	SNP	A	A	C			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr1:247751693A>C	ENST00000320065.1	+	1	32	c.32A>C	c.(31-33)aAc>aCc	p.N11T	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N11S(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AATGAGAGCAACCTAGCAGGT	0.398000													24	121					0	0	1	0	0
ASPH	444	broad.mit.edu	37	8	62430195	62430195	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr8:62430195C>A	ENST00000541428.1	-	24	2091	c.1931G>T	c.(1930-1932)gGg>gTg	p.G644V	ASPH_ENST00000379454.4_Missense_Mutation_p.G673V	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	673					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CACGTGAGTCCCGGGGTGCAT	0.512000													32	76					3.80469e-20	4.88319e-20	1	1	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95481333	95481333	+	RNA	SNP	C	C	A			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr2:95481333C>A	ENST00000432432.2	-	0	2027					NR_040113.1																						ACAGAAACATCTTGTGTTCTC	0.333000													23	103					7.87624e-14	9.65284e-14	1	1	0
CDC42BPG	55561	broad.mit.edu	37	11	64600133	64600133	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr11:64600133G>T	ENST00000342711.5	-	26	2947	c.2948C>A	c.(2947-2949)gCc>gAc	p.A983D		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	983	PH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						CAGGTCAGGGGCGTCAAACAG	0.672000													25	50					4.4004e-07	4.87936e-07	1	1	0
BAGE2	85319	broad.mit.edu	37	21	11098863	11098863	+	RNA	SNP	A	A	G	rs75318310	by1000genomes	TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr21:11098863A>G	ENST00000470054.1	-	0	62									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccagcctccaactcccccttc	0.627000													5	20					0	0	1	0	0
KAL1	3730	broad.mit.edu	37	X	8555903	8555903	+	Nonsense_Mutation	SNP	G	G	A			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chrX:8555903G>A	ENST00000262648.3	-	5	807	c.658C>T	c.(658-660)Caa>Taa	p.Q220*		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	220	Fibronectin type-III 1.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						CATCTTCTTTGTACCACATAG	0.428000													6	4					0	0	1	0	0
VANGL1	81839	broad.mit.edu	37	1	116233765	116233765	+	Missense_Mutation	SNP	C	C	T	rs148199776		TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr1:116233765C>T	ENST00000355485.2	+	8	1611	c.1340C>T	c.(1339-1341)gCg>gTg	p.A447V	VANGL1_ENST00000369509.1_Missense_Mutation_p.A447V|VANGL1_ENST00000369510.3_Missense_Mutation_p.A445V|VANGL1_ENST00000310260.3_Missense_Mutation_p.A447V	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	447					multicellular organismal development	integral to membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TACCTCAGTGCGGGCCCCACC	0.542000													4	41					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42003403	42003403	+	Silent	SNP	A	A	G			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr15:42003403A>G	ENST00000219905.7	+	8	3121	c.2940A>G	c.(2938-2940)caA>caG	p.Q980Q	MGA_ENST00000545763.1_Silent_p.Q980Q|MGA_ENST00000389936.4_Silent_p.Q980Q|MGA_ENST00000570161.1_Silent_p.Q980Q|MGA_ENST00000566586.1_Silent_p.Q980Q	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	980	Gln-rich.					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		AGCAACAGCAACAGGGAAGTC	0.463000													20	80					0	0	1	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266104	41266104	+	Missense_Mutation	SNP	G	G	T	rs28931589		TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr3:41266104G>T	ENST00000349496.5	+	3	381	c.101G>T	c.(100-102)gGa>gTa	p.G34V	CTNNB1_ENST00000453024.1_Missense_Mutation_p.G27V|CTNNB1_ENST00000396185.3_Missense_Mutation_p.G34V|CTNNB1_ENST00000405570.1_Missense_Mutation_p.G34V|CTNNB1_ENST00000396183.3_Missense_Mutation_p.G34V	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	34			G -> E (in PTR).|G -> R (in hepatocellular carcinoma).|G -> V (in hepatoblastoma; dbSNP:rs28931589).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.G34E(73)|p.G34V(72)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.D32_H36>D(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.D32fs*9(1)|p.A5_T40del(1)|p.S29_H36del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.GIHS34?(1)|p.A5_I35del(1)|p.D32_H36del(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	CTGGACTCTGGAATCCATTCT	0.488000	G34E(AGS_STOMACH)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				13	28					3.27435e-08	3.68082e-08	1	1	0
LRFN5	145581	broad.mit.edu	37	14	42357036	42357036	+	Nonsense_Mutation	SNP	C	C	A			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr14:42357036C>A	ENST00000554171.1	+	5	3640	c.1208C>A	c.(1207-1209)tCa>tAa	p.S403*	LRFN5_ENST00000554120.1_Nonsense_Mutation_p.S403*|LRFN5_ENST00000298119.4_Nonsense_Mutation_p.S403*			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	403						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TCTACCAAGTCAGGTTCTAAT	0.363000										HNSCC(30;0.082)			9	56					1.58986e-06	1.751e-06	1	1	0
EFS	10278	broad.mit.edu	37	14	23829812	23829812	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr14:23829812C>A	ENST00000216733.3	-	2	856	c.249G>T	c.(247-249)caG>caT	p.Q83H	EFS_ENST00000351354.3_Intron|EFS_ENST00000429593.2_Intron	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	83	Pro-rich.				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GTGAGCCAGGCTGGGCTGGGG	0.652000													22	104					2.27525e-19	2.87493e-19	1	1	0
ANXA5	308	broad.mit.edu	37	4	122607464	122607464	+	Silent	SNP	G	G	T			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr4:122607464G>T	ENST00000296511.5	-	3	358	c.73C>A	c.(73-75)Cgg>Agg	p.R25R	ANXA5_ENST00000509016.1_5'UTR|ANXA5_ENST00000501272.2_Intron|ANXA5_ENST00000515017.1_Silent_p.R25R	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN	annexin A5	25					anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity			NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						ATAGCCTTCCGAAGAGTTTCT	0.378000													18	43					0.0438628	0.0444077	1	1	0
WFDC3	140686	broad.mit.edu	37	20	44404233	44404233	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr20:44404233C>T	ENST00000243938.4	-	6	585	c.502G>A	c.(502-504)Ggt>Agt	p.G168S	WFDC3_ENST00000372632.2_Missense_Mutation_p.G74S|WFDC3_ENST00000481847.1_5'UTR|WFDC3_ENST00000372630.2_Missense_Mutation_p.G31S	NM_080614.1	NP_542181.1	Q8IUB2	WFDC3_HUMAN	WAP four-disulfide core domain 3	168	WAP 4.					extracellular region	serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(3)|prostate(1)	5		Myeloproliferative disorder(115;0.0122)				GGACAATCACCGCCCCGCCCT	0.532000													19	81					0	0	1	0	0
UBXN4	23190	broad.mit.edu	37	2	136505934	136505934	+	Silent	SNP	C	C	G			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr2:136505934C>G	ENST00000272638.9	+	2	491	c.180C>G	c.(178-180)acC>acG	p.T60T		NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	60					response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						AAATCGATACCAAAAGGTTTG	0.294000													7	43					0	0	1	0	0
ZNF557	79230	broad.mit.edu	37	19	7083400	7083400	+	Missense_Mutation	SNP	T	T	C			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr19:7083400T>C	ENST00000414706.1	+	8	1411	c.938T>C	c.(937-939)aTt>aCt	p.I313T	ZNF557_ENST00000439035.2_Missense_Mutation_p.I306T|ZNF557_ENST00000252840.6_Missense_Mutation_p.I313T	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	Q8N988	ZN557_HUMAN	zinc finger protein 557	306					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		CACTATAGCATTCATACAGGG	0.468000													43	76					0	0	1	0	0
KIAA1328	57536	broad.mit.edu	37	18	34465577	34465577	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr18:34465577T>A	ENST00000591619.1	+	5	1164	c.378T>A	c.(376-378)ttT>ttA	p.F126L	KIAA1328_ENST00000592521.1_Missense_Mutation_p.F130L|KIAA1328_ENST00000280020.5_Missense_Mutation_p.F130L|KIAA1328_ENST00000435985.2_5'UTR|KIAA1328_ENST00000543923.1_Missense_Mutation_p.F22L			Q86T90	K1328_HUMAN	KIAA1328	130										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		AGGAGTCATTTGAGAAGAAGA	0.338000													3	10					0	0	1	0	0
ETNK1	55500	broad.mit.edu	37	12	22811992	22811992	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr12:22811992A>T	ENST00000266517.4	+	3	817	c.728A>T	c.(727-729)cAc>cTc	p.H243L		NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	243				RLIARQLAKIHAIHAHNGWIPKSNLWLKMGK -> SLSSLT LCKGKTTRCFGLTGCRGSRLLLSFF (in Ref. 2; AAH06111).	phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						ATTCATGCACACAATGGCTGG	0.363000													17	44					0	0	1	0	0
MLLT10	8028	broad.mit.edu	37	10	22019890	22019890	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr10:22019890C>G	ENST00000377072.3	+	18	2521	c.2173C>G	c.(2173-2175)Ctg>Gtg	p.L725V	MLLT10_ENST00000377059.3_Missense_Mutation_p.L709V|MLLT10_ENST00000307729.7_Missense_Mutation_p.L709V|MLLT10_ENST00000446906.2_Missense_Mutation_p.L709V	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	725	Transactivation domain.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						TTTGGAAAATCTGCCTCCAGT	0.438000			T	"""MLL, PICALM, CDK6"""	AL								28	138					0	0	1	0	0
OR5D14	219436	broad.mit.edu	37	11	55563539	55563539	+	Missense_Mutation	SNP	T	T	G			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr11:55563539T>G	ENST00000335605.1	+	1	508	c.508T>G	c.(508-510)Ttc>Gtc	p.F170V		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				CCGGTTAAACTTCTCTGGACC	0.502000													36	197					0	0	1	0	0
CLEC16A	23274	broad.mit.edu	37	16	11260249	11260249	+	Silent	SNP	C	C	T			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr16:11260249C>T	ENST00000409790.1	+	23	2876	c.2646C>T	c.(2644-2646)ttC>ttT	p.F882F	CLEC16A_ENST00000381822.2_5'UTR	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	882								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TTGCAGGCTTCGCCGTGGCCC	0.617000													13	44					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51217189	51217189	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr19:51217189C>T	ENST00000293441.1	-	5	676	c.658G>A	c.(658-660)Gcg>Acg	p.A220T	SHANK1_ENST00000359082.3_Missense_Mutation_p.A220T|SHANK1_ENST00000391814.1_Missense_Mutation_p.A220T	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	220					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GTCTGGGCCGCCAGTGTCAAG	0.617000													20	46					0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142479940	142479940	+	RNA	SNP	C	C	T	rs58649169	by1000genomes	TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr7:142479940C>T	ENST00000603901.1	+	0	72					NR_001296.3																						ATGACAAGATCGTTGGGGGCT	0.557000													4	74					0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	240979667	240979667	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr1:240979667T>A	ENST00000366565.1	-	11	1114	c.733A>T	c.(733-735)Aca>Tca	p.T245S	RGS7_ENST00000366564.1_Missense_Mutation_p.T245S|RGS7_ENST00000446183.2_Missense_Mutation_p.T161S|RGS7_ENST00000348120.2_Missense_Mutation_p.T192S|RGS7_ENST00000407727.1_Missense_Mutation_p.T245S|RGS7_ENST00000401882.1_Missense_Mutation_p.T192S|RGS7_ENST00000366562.4_Missense_Mutation_p.T245S|RGS7_ENST00000331110.7_Missense_Mutation_p.T219S|RGS7_ENST00000366563.1_Missense_Mutation_p.T245S	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	245					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GGTGTGGGTGTGTGGGTAGGA	0.353000													71	129					0	0	1	0	0
FAM86JP	100125556	broad.mit.edu	37	3	125643933	125643933	+	RNA	SNP	A	A	G	rs73858994	by1000genomes	TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr3:125643933A>G	ENST00000485843.1	+	0	457					NR_024251.1																						ACCCAGAGACATGCCAGCTGT	0.647000													6	134					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166246021	166246021	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr2:166246021G>T	ENST00000375437.2	+	27	5995	c.5705G>T	c.(5704-5706)cGc>cTc	p.R1902L	SCN2A_ENST00000375427.2_Missense_Mutation_p.R1902L|SCN2A_ENST00000357398.3_Missense_Mutation_p.R1902L|SCN2A_ENST00000283256.6_Missense_Mutation_p.R1902L	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1902			R -> T (associated with autism).		myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	ACGTTGAAACGCAAACAAGAG	0.433000													23	36					1.36565e-18	1.71231e-18	1	1	0
ADAMTS4	9507	broad.mit.edu	37	1	161163924	161163924	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr1:161163924T>A	ENST00000367996.4	-	5	1777	c.1349A>T	c.(1348-1350)cAg>cTg	p.Q450L		NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	450	Disintegrin.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GAAGGTCAGCTGGCACTGGCG	0.617000													75	103					0	0	1	0	0
FAM227B	196951	broad.mit.edu	37	15	49882058	49882058	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr15:49882058C>T	ENST00000299338.6	-	4	555	c.252G>A	c.(250-252)atG>atA	p.M84I	FAM227B_ENST00000560246.1_Missense_Mutation_p.M84I|FAM227B_ENST00000558862.1_5'UTR|FAM227B_ENST00000561064.1_Missense_Mutation_p.M84I|FAM227B_ENST00000558594.1_Missense_Mutation_p.M84I	NM_152647.2	NP_689860.2			family with sequence similarity 227, member B																		ATTTTGATTCCATGATCAAAA	0.303000													6	32					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58206769	58206769	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr13:58206769G>T	ENST00000377918.3	+	1	115	c.89G>T	c.(88-90)gGg>gTg	p.G30V		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	30	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GAGGAGCAAGGGGCCGGCACG	0.632000													17	28					1.15088e-07	1.28488e-07	1	1	0
MSLNL	401827	broad.mit.edu	37	16	830593	830593	+	Silent	SNP	G	G	A			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr16:830593G>A	ENST00000293892.3	-	3	407	c.408C>T	c.(406-408)caC>caT	p.H136H	MSLNL_ENST00000442466.1_Intron			Q96KJ4	MSLNL_HUMAN	mesothelin-like	0					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CTGTGGATGCGTGCAGGCACG	0.562000													47	200					0	0	1	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803276	142803278	+	RNA	DEL	AAC	AAC	-			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr1:142803276_142803278delAAC	ENST00000423385.1	-	0	1687_1689																											ACCAAACCAAaacaacaacaaca	0.345													3	4	---	---	---	---					
ZNF142	7701	broad.mit.edu	37	2	219507662	219507682	+	In_Frame_Del	DEL	TGAGCCGCCGGTGCTGCTGCA	TGAGCCGCCGGTGCTGCTGCA	-	rs61733613	by1000genomes	TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr2:219507662_219507682delTGAGCCGCCGGTGCTGCTGCA	ENST00000411696.2	-	7	4336_4356	c.3557_3577delTGCAGCAGCACCGGCGGCTCA	c.(3556-3579)aag>a	p.MQQHRRLK1186del	ZNF142_ENST00000449707.1_In_Frame_Del_p.MQQHRRLK1186del			P52746	ZN142_HUMAN	zinc finger protein 142	1186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CCCTCGTGCTTGAGCCGCCGGTGCTGCTGCATGCAACGGCT	0.638													16	72	---	---	---	---					
FLJ33360	401172	broad.mit.edu	37	5	6337066	6337067	+	RNA	DEL	AC	AC	-			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr5:6337066_6337067delAC	ENST00000507444.1	-	0	143					NR_028351.1																						acacatacatacacacacacac	0.475													4	8	---	---	---	---					
ARRDC3	57561	broad.mit.edu	37	5	90670825	90670826	+	Frame_Shift_Del	DEL	TC	TC	-	rs148784577		TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr5:90670825_90670826delTC	ENST00000265138.3	-	5	1049_1050	c.783_784delGA	c.(781-786)gacgfs	p.ET261fs		NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	261					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		CCATTCCACGTCTCTGTCTTTC	0.426													8	73	---	---	---	---					
KIAA1549	57670	broad.mit.edu	37	7	138602386	138602391	+	In_Frame_Del	DEL	AGACTG	AGACTG	-			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr7:138602386_138602391delAGACTG	ENST00000440172.1	-	2	2029_2034	c.1981_1986delCAGTCT	c.(1981-1986)del	p.QS661del	KIAA1549_ENST00000242365.4_In_Frame_Del_p.QS611del|KIAA1549_ENST00000422774.1_In_Frame_Del_p.QS661del	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	661	Ser-rich.					integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AGGGAGAAAAAGACTGAGATGTGAAG	0.510			O	BRAF	pilocytic astrocytoma								12	37	---	---	---	---					
PRSS3P2	154754	broad.mit.edu	37	7	142481743	142481745	+	RNA	DEL	CTA	CTA	-			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr7:142481743_142481745delCTA	ENST00000603901.1	+	0	454					NR_001296.3																						ACCCACATTTCTACTTTCTTTAT	0.517													3	5	---	---	---	---					
MTDH	92140	broad.mit.edu	37	8	98673319	98673325	+	Frame_Shift_Del	DEL	AAGTGGC	AAGTGGC	-			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr8:98673319_98673325delAAGTGGC	ENST00000336273.3	+	2	729_735	c.401_407delAAGTGGC	c.(400-408)gtfs	p.EVA134fs	MTDH_ENST00000519934.1_Frame_Shift_Del_p.EVA111fs	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	134	Interaction with BCCIP.|Interaction with RELA.				lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			CGGACTGTTGAAGTGGCTGAGGGTGAA	0.411													10	27	---	---	---	---					
RP11-218F4.1	0	broad.mit.edu	37	17	26280035	26280035	+	RNA	DEL	T	T	-			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr17:26280035delT	ENST00000567574.1	-	0	136																											GCAGCCCAGGTTCATCATTAG	0.562													3	3	---	---	---	---					
EEF2	1938	broad.mit.edu	37	19	3983180	3983181	+	Frame_Shift_Ins	INS	-	-	A	rs139400567		TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr19:3983180_3983181insA	ENST00000309311.6	-	3	415_416	c.327_328insT	c.(325-330)gtacttfs	p.L110fs		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	110						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGGAGAAGTCGACATGCCCGG	0.599													16	34	---	---	---	---					
KEAP1	9817	broad.mit.edu	37	19	10600473	10600479	+	Frame_Shift_Del	DEL	ATCCTTC	ATCCTTC	-	rs145311080		TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chr19:10600473_10600479delATCCTTC	ENST00000171111.5	-	4	1923_1929	c.1376_1382delGAAGGAT	c.(1375-1383)ccfs	p.RRI459fs	KEAP1_ENST00000393623.2_Frame_Shift_Del_p.RRI459fs	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	459					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.R460G(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GCCCACCCCGATCCTTCGTGTCAGCAT	0.556													11	23	---	---	---	---					
SH3KBP1	30011	broad.mit.edu	37	X	19626146	19626153	+	Frame_Shift_Del	DEL	GCCTACGT	GCCTACGT	-			TCGA-62-A470-01A-11D-A24D-08	TCGA-62-A470-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165758df-68be-4d8f-8d9d-559ee0185ed0	749b4820-5d11-43bc-9e17-edb0d1a72456	g.chrX:19626146_19626153delGCCTACGT	ENST00000397821.3	-	9	1198_1205	c.908_915delACGTAGGC	c.(907-915)gfs	p.DVG303fs	SH3KBP1_ENST00000379697.3_Frame_Shift_Del_p.DVG347fs|SH3KBP1_ENST00000379716.1_Frame_Shift_Del_p.DVG65fs|SH3KBP1_ENST00000477102.1_5'UTR|SH3KBP1_ENST00000379698.4_Frame_Shift_Del_p.DVG266fs|SH3KBP1_ENST00000541422.1_Frame_Shift_Del_p.DVG42fs	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	303	SH3 3.				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						CTTCCCACCAGCCTACGTCGATGCAGTC	0.538													10	37	---	---	---	---					
